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Revista de la Universidad Industrial de Santander. Salud
Print version ISSN 0121-0807On-line version ISSN 2145-8464
Abstract
GARCIA AYALA, Ernesto and CASTILLO PEREZ, Sergio Andrés. Osteopoikilosis and Buschke-Ollendorf Syndrome: Case report and review of the literature. Rev. Univ. Ind. Santander. Salud [online]. 2011, vol.43, n.3, pp.321-326. ISSN 0121-0807.
Introduction: Osteopoikilosis is a rare sclerosing bone dysplasia, its diagnosis is usually incidental on radiographs showing multiple sclerotic areas in diferent bones of the skeleton. Case report: This article presents a 58 year old male patient with characteristic radiographic lesions in the femur, pelvis, skull and a with cutaneous involvement treated at the Hospital Universitario de Santander. Discussion: This disease is autosomal dominant and is apparently caused by a loss of function mutation of the gene LEMD3. Is occasionally associated with skin lesions, which are called Buschke-Ollendorf syndrome as in this case. Its importance lies in the possibility of confusion with metastatic tumor lesions leading to unnecessary interventions. Salud UIS 2011; 43 (3): 321-326
Keywords : Osteopoikilosis; developmental bone diseases; osteosclerosis; connective tissue diseases.